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About: oblique facial clefting 1     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • oblique facial clefting 1
described by
id
  • DOID:0111706
database_cross_reference
  • OMIM:600251
has_exact_synonym
  • Tessier number 4 facial cleft
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23.
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